ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.4153T>G (p.Ser1385Ala)

gnomAD frequency: 0.00036  dbSNP: rs201246214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333910 SCV001526617 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2018-05-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003718407 SCV004507563 benign not provided 2024-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004960799 SCV005456023 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.4153T>G (p.S1385A) alteration is located in exon 10 (coding exon 9) of the MYO15A gene. This alteration results from a T to G substitution at nucleotide position 4153, causing the serine (S) at amino acid position 1385 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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