ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.2513C>T (p.Pro838Leu)

gnomAD frequency: 0.00005  dbSNP: rs765830662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508111 SCV000604416 benign not provided 2017-09-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023435 SCV003703260 uncertain significance not specified 2021-11-09 criteria provided, single submitter clinical testing The c.2513C>T (p.P838L) alteration is located in exon 24 (coding exon 23) of the MYO1A gene. This alteration results from a C to T substitution at nucleotide position 2513, causing the proline (P) at amino acid position 838 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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