NM_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys) AND Hereditary spastic paraplegia 28

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000462937.9

Allele description [Variation Report for NM_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys)]

NM_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys)

Gene:

DDHD1:DDHD domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.1

Genomic location:

Preferred name:

NM_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys)

HGVS:

NC_000014.9:g.53054443G>C
NG_042832.1:g.103886C>G
NM_001160147.2:c.2453C>G
NM_001160148.1:c.2432C>G
NM_001160148.2:c.2432C>GMANE SELECT
NM_030637.3:c.2432C>G
NP_001153619.1:p.Ser818Cys
NP_001153620.1:p.Ser811Cys
NP_085140.2:p.Ser811Cys
NC_000014.8:g.53521161G>C
NM_001160147.1:c.2453C>G
p.Ser818Cys

Protein change:

S811C

Links:

dbSNP: rs193261227

NCBI 1000 Genomes Browser:

rs193261227

Molecular consequence:

NM_001160147.2:c.2453C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001160148.2:c.2432C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_030637.3:c.2432C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary spastic paraplegia 28
Synonyms:: Spastic paraplegia 28, autosomal recessive
Identifiers:: MONDO: MONDO:0012256; MedGen: C1836295; Orphanet: 101008; OMIM: 609340

Recent activity

Clear Turn Off Turn On

transmembrane protein 56 [Cucurbita pepo subsp. pepo]
transmembrane protein 56 [Cucurbita pepo subsp. pepo]
gi|1333136435|ref|XP_023543000.1|

Protein
nudix hydrolase 18, mitochondrial-like [Cucurbita moschata]
nudix hydrolase 18, mitochondrial-like [Cucurbita moschata]
gi|1279827356|ref|XP_022923899.1|

Protein
nudix hydrolase 18, mitochondrial-like [Cucurbita maxima]
nudix hydrolase 18, mitochondrial-like [Cucurbita maxima]
gi|1281028591|ref|XP_022998739.1|

Protein
TLC domain-containing protein 4-like [Benincasa hispida]
TLC domain-containing protein 4-like [Benincasa hispida]
gi|1955873712|ref|XP_038894770.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000548692	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 1, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000548692

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 1, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000548692.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This sequence change replaces serine with cysteine at codon 818 of the DDHD1 protein (p.Ser818Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs193261227, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with DDHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 408872). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine