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NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 2, 2023
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:
RCV003170846.2

Allele description [Variation Report for NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)]

NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
HGVS:
  • NC_000013.11:g.23331343G>A
  • NG_012342.1:g.107360C>T
  • NM_001278055.2:c.12092C>T
  • NM_014363.4:c.12533C>T
  • NM_014363.6:c.12533C>TMANE SELECT
  • NP_001264984.1:p.Pro4031Leu
  • NP_055178.3:p.Pro4178Leu
  • NC_000013.10:g.23905482G>A
Protein change:
P4031L
Molecular consequence:
  • NM_001278055.2:c.12092C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.12533C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003887631Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 2, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003887631.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.12533C>T (p.P4178L) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to T substitution at nucleotide position 12533, causing the proline (P) at amino acid position 4178 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024