ClinVar Miner

Submissions for variant NM_001080467.3(MYO5B):c.548T>C (p.Val183Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004649984 SCV005142587 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.548T>C (p.V183A) alteration is located in exon 5 (coding exon 5) of the MYO5B gene. This alteration results from a T to C substitution at nucleotide position 548, causing the valine (V) at amino acid position 183 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023614 SCV005654191 uncertain significance Congenital microvillous atrophy; Cholestasis, progressive familial intrahepatic, 10 2024-03-25 criteria provided, single submitter clinical testing

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