ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4852G>A (p.Ala1618Thr)

gnomAD frequency: 0.00002  dbSNP: rs772542296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245047 SCV001418309 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1618 of the MYO7A protein (p.Ala1618Thr). This variant also falls at the last nucleotide of exon 35, which is part of the consensus splice site for this exon. This variant is present in population databases (rs772542296, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 969653). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001829946 SCV002088473 uncertain significance Usher syndrome type 1B 2020-07-12 no assertion criteria provided clinical testing

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