ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.2159C>T (p.Ala720Val)

gnomAD frequency: 0.00004  dbSNP: rs746972322
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586400 SCV001812839 likely benign not provided 2020-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001586400 SCV003489387 benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039480 SCV004946343 uncertain significance Inborn genetic diseases 2024-02-06 criteria provided, single submitter clinical testing The c.2159C>T (p.A720V) 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 2159, causing the alanine (A) at amino acid position 720 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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