ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.974C>T (p.Ala325Val)

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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 RCV004373697 SCV004857600 uncertain significance Inborn genetic diseases 2023-12-27 criteria provided, single submitter clinical testing The c.974C>T (p.A325V) alteration is located in exon 10 (coding exon 10) of the DIAPH1 gene. This alteration results from a C to T substitution at nucleotide position 974, causing the alanine (A) at amino acid position 325 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005220882 SCV005865883 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 325 of the DIAPH1 protein (p.Ala325Val). This variant is present in population databases (rs376981308, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. 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.

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