ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1034C>G (p.Ser345Cys)

gnomAD frequency: 0.00249  dbSNP: rs35315400
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155162 SCV000204848 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ser345Cys in Exon 10 of MYH14: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (30/3264) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs35315400).
GeneDx RCV000897987 SCV000725926 likely benign not provided 2020-10-22 criteria provided, single submitter clinical testing
Invitae RCV000897987 SCV001042169 benign not provided 2023-09-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001136432 SCV001296268 benign Autosomal dominant nonsyndromic hearing loss 4A 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV002514986 SCV003731135 uncertain significance Inborn genetic diseases 2022-07-19 criteria provided, single submitter clinical testing The c.1010C>G (p.S337C) alteration is located in exon 9 (coding exon 8) of the MYH14 gene. This alteration results from a C to G substitution at nucleotide position 1010, causing the serine (S) at amino acid position 337 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003927502 SCV004741680 benign MYH14-related disorder 2019-05-31 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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