ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.848A>C (p.Gln283Pro)

gnomAD frequency: 0.00005  dbSNP: rs199541460
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490430 SCV000267411 uncertain significance Autosomal recessive nonsyndromic hearing loss 30 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV005090050 SCV005833608 uncertain significance not provided 2024-07-04 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 283 of the MYO3A protein (p.Gln283Pro). This variant is present in population databases (rs199541460, gnomAD 0.07%). This missense change has been observed in individual(s) with deafness (PMID: 23967202). ClinVar contains an entry for this variant (Variation ID: 225417). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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