ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3871G>T (p.Val1291Leu)

gnomAD frequency: 0.00024  dbSNP: rs202242879
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296521 SCV000414430 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000757519 SCV000727739 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757519 SCV000885773 likely benign not provided 2017-07-14 criteria provided, single submitter clinical testing The p.Val1250Leu variant (rs202242879) has not been reported in the medical literature, however it has been reported to ClinVar (Variation ID: 329935). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency in the South Asian population of 0.4 percent (identified on 129 out of 30,394 chromosomes, including 4 homozygotes). The valine at position 1250 is highly conserved considering seven species; however, the physiochemical change to leucine is subtle and unlikely to be disruptive to protein function (Alamut v2.9.0). Altogether, the p.Val1250Leu variant is likely to be benign.
Invitae RCV000757519 SCV002407491 benign not provided 2023-08-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000757519 SCV002543967 benign not provided 2022-07-01 criteria provided, single submitter clinical testing MYH14: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003969944 SCV004781638 benign MYH14-related disorder 2019-08-27 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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