ClinVar Miner

Submissions for variant NM_000918.4(P4HB):c.709G>A (p.Val237Ile)

gnomAD frequency: 0.00016  dbSNP: rs145040305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760816 SCV001991432 uncertain significance not provided 2019-07-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001760816 SCV002363091 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540314 SCV003721184 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.709G>A (p.V237I) alteration is located in exon 5 (coding exon 5) of the P4HB gene. This alteration results from a G to A substitution at nucleotide position 709, causing the valine (V) at amino acid position 237 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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