ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met)

gnomAD frequency: 0.00001  dbSNP: rs754761542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671222 SCV000796177 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-12-04 criteria provided, single submitter clinical testing
Invitae RCV001855555 SCV002178945 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1854 of the MYO7A protein (p.Val1854Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with deafness (PMID: 28000701). ClinVar contains an entry for this variant (Variation ID: 555403). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYO7A protein function. 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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