ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.1562C>T (p.Pro521Leu)

gnomAD frequency: 0.00038  dbSNP: rs867630446
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001663364 SCV001873657 uncertain significance not provided 2024-10-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002539595 SCV003722462 uncertain significance Inborn genetic diseases 2022-02-02 criteria provided, single submitter clinical testing The c.1562C>T (p.P521L) alteration is located in exon 2 (coding exon 1) of the MYO15A gene. This alteration results from a C to T substitution at nucleotide position 1562, causing the proline (P) at amino acid position 521 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001663364 SCV004325454 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001663364 SCV005192765 uncertain significance not provided criteria provided, single submitter not provided

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