ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn)

gnomAD frequency: 0.00013  dbSNP: rs372050452
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825402 SCV000966699 uncertain significance not specified 2018-10-24 criteria provided, single submitter clinical testing The p.Lys1128Asn variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome but has been identified in 0.05% (10/18068 ) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org). Computational prediction tools and conservation analysi s do not provide strong support for or against an impact to the protein. In summ ary, the clinical significance of the p.Lys1128Asn variant is uncertain. ACMG/AM P Criteria applied: PM2_Supporting.
Invitae RCV001858389 SCV002183932 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536051 SCV003690871 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.3384G>C (p.K1128N) alteration is located in exon 27 (coding exon 26) of the MYO7A gene. This alteration results from a G to C substitution at nucleotide position 3384, causing the lysine (K) at amino acid position 1128 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001272511 SCV001454583 uncertain significance Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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