ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser) (rs145522874)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151200 SCV000199031 uncertain significance not specified 2014-05-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala1569Ser vari ant in MYH14 has not been previously reported in individuals with hearing loss, but has been identified in 0.07% (3/4202) of African American chromosomes and 0. 01% (1/8436) European American chromosomes by the NHLBI Exome Sequencing Project , and in 1.0% (2/190) of Luhya (Kenyan) chromosomes and 0.8% (1/119) of Columbia n chromosomes by the 1000 Genomes Project (http://evs.gs.washington.edu/EVS/; db SNP rs145522874). Computational prediction tools and conservation analyses do no t provide strong support for or against an impact to the protein. In summary, wh ile the clinical significance of the Ala1569Ser variant is uncertain, its presen ce in several racially diverse populations at a range of frequencies (0.01% - 1. 0%) suggests a more likely benign role.
Invitae RCV000898608 SCV001042824 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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