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NM_000337.6(SGCD):c.586C>A (p.Pro196Thr) AND Dilated cardiomyopathy 1L

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 8, 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:
RCV003234035.1

Allele description [Variation Report for NM_000337.6(SGCD):c.586C>A (p.Pro196Thr)]

NM_000337.6(SGCD):c.586C>A (p.Pro196Thr)

Gene:
SGCD:sarcoglycan delta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.3
Genomic location:
Preferred name:
NM_000337.6(SGCD):c.586C>A (p.Pro196Thr)
HGVS:
  • NC_000005.10:g.156757591C>A
  • NG_008693.2:g.892249C>A
  • NM_000337.6:c.586C>AMANE SELECT
  • NM_001128209.2:c.583C>A
  • NM_172244.3:c.586C>A
  • NP_000328.2:p.Pro196Thr
  • NP_001121681.1:p.Pro195Thr
  • NP_758447.1:p.Pro196Thr
  • LRG_205t1:c.586C>A
  • LRG_205:g.892249C>A
  • NC_000005.9:g.156184602C>A
  • NM_000337.5:c.586C>A
Protein change:
P195T
Links:
dbSNP: rs1757387093
NCBI 1000 Genomes Browser:
rs1757387093
Molecular consequence:
  • NM_000337.6:c.586C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128209.2:c.583C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172244.3:c.586C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1L (CMD1L)
Identifiers:
MONDO: MONDO:0011702; MedGen: C1847667; Orphanet: 154; OMIM: 606685

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003931880Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 8, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV003931880.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024