ClinVar Miner

Submissions for variant NM_000918.4(P4HB):c.104C>T (p.Ala35Val)

gnomAD frequency: 0.00030  dbSNP: rs376060719
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002126698 SCV002460643 benign not provided 2024-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004656889 SCV005148116 uncertain significance Inborn genetic diseases 2024-06-19 criteria provided, single submitter clinical testing The c.104C>T (p.A35V) alteration is located in exon 1 (coding exon 1) of the P4HB gene. This alteration results from a C to T substitution at nucleotide position 104, causing the alanine (A) at amino acid position 35 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003903533 SCV004727591 likely benign P4HB-related disorder 2023-10-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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