ClinVar Miner

Submissions for variant NM_001080467.3(MYO5B):c.1492G>A (p.Asp498Asn)

gnomAD frequency: 0.00081  dbSNP: rs200175136
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902252 SCV001046666 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001122952 SCV001281739 uncertain significance Congenital microvillous atrophy 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002537552 SCV003592340 uncertain significance Inborn genetic diseases 2024-10-19 criteria provided, single submitter clinical testing The c.1492G>A (p.D498N) alteration is located in exon 12 (coding exon 12) of the MYO5B gene. This alteration results from a G to A substitution at nucleotide position 1492, causing the aspartic acid (D) at amino acid position 498 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003950593 SCV004761119 likely benign MYO5B-related disorder 2022-02-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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