ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.407A>G (p.Tyr136Cys)

gnomAD frequency: 0.00008  dbSNP: rs374692755
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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 RCV002998205 SCV003716297 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.407A>G (p.Y136C) alteration is located in exon 6 (coding exon 5) of the MPV17 gene. This alteration results from a A to G substitution at nucleotide position 407, causing the tyrosine (Y) at amino acid position 136 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004763586 SCV005373447 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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