ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2003C>T (p.Ser668Phe)

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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 RCV003795002 SCV004588222 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 668 of the DIAPH1 protein (p.Ser668Phe). 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. 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 RCV004614527 SCV005104590 uncertain significance Inborn genetic diseases 2024-04-08 criteria provided, single submitter clinical testing The c.2003C>T (p.S668F) alteration is located in exon 16 (coding exon 16) of the DIAPH1 gene. This alteration results from a C to T substitution at nucleotide position 2003, causing the serine (S) at amino acid position 668 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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