ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.821C>T (p.Ser274Phe)

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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 RCV002780637 SCV003027156 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2023-10-03 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 274 of the LDHA protein (p.Ser274Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1985290). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LDHA protein function. 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 RCV004983137 SCV005612249 uncertain significance Inborn genetic diseases 2024-08-14 criteria provided, single submitter clinical testing The c.821C>T (p.S274F) alteration is located in exon 7 (coding exon 6) of the LDHA gene. This alteration results from a C to T substitution at nucleotide position 821, causing the serine (S) at amino acid position 274 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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