ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.307A>G (p.Met103Val)

dbSNP: rs2099897198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351414 SCV001545878 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 103 of the DIAPH1 protein (p.Met103Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1046809). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002548477 SCV003606454 uncertain significance Inborn genetic diseases 2022-04-18 criteria provided, single submitter clinical testing The c.307A>G (p.M103V) alteration is located in exon 4 (coding exon 4) of the DIAPH1 gene. This alteration results from a A to G substitution at nucleotide position 307, causing the methionine (M) at amino acid position 103 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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